Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602879 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AAR2 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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AAR2 - AAR2 splicing factor homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271874.1 | 595 | Missense Mutation | ACT,CCT | T,P 124 | NP_001258803.1 | |
NM_015511.4 | 595 | Missense Mutation | ACT,CCT | T,P 124 | NP_056326.2 | |
XM_006723770.3 | 595 | Missense Mutation | ACT,CCT | T,P 124 | XP_006723833.1 | |
XM_011528762.2 | 595 | Missense Mutation | ACT,CCT | T,P 124 | XP_011527064.1 | |
XM_011528763.2 | 595 | Missense Mutation | ACT,CCT | T,P 124 | XP_011527065.1 |
EPB41L1 - erythrocyte membrane protein band 4.1 like 1 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |